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PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Grimes, H; Ansari, M; Ashraf, T; Cueto-González, Anna Mª; Calder, A; Day, M; Fernandez Alvarez, P; Foster, A; Lahiri, N; Repetto, G M; Scurr, I; Varghese, V; Low, Karen J.
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  • Grimes H; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.
  • Ansari M; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.
  • Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  • Calder A; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.
  • Day M; Department of Radiology, Great Ormond Street Hospital, London, UK.
  • Fernandez Alvarez P; Exeter Genetics Laboratory, Royal Devon and Exeter NHS Trust, Exeter, UK.
  • Foster A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  • Lahiri N; Department of Clinical Genetics, West Midlands Regional Genetics Centre, Birmingham, UK.
  • Repetto GM; Department of Clinical Genetics, St Georges University Hospital NHS Foundation Trust, London, UK.
  • Scurr I; Department of Clinical and Molecular Science, St Georges University of London, London, UK.
  • Varghese V; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
  • Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.
Am J Med Genet A ; 191(10): 2610-2622, 2023 10.
Article en En | MEDLINE | ID: mdl-37303278
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Coloboma / Cardiopatías Congénitas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Coloboma / Cardiopatías Congénitas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article